| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KIFBP, LOC130003959 (E23G) | Single nucleotide variant (missense variant) | KIFBP-related disorder +3 more | |
| | | Single nucleotide variant (nonsense) | Goldberg-Shprintzen syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene